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Defects in RNA splicing and the consequence of shortened translational reading frames

published in: American Journal of Human Genetics

date of publication: 1996-08-01

language: English

Cites articles 56

Date

Title

Authors

1996-08-01

Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa

Marina Colombi
1996-02-01

Nuclear retention of COL1A1 messenger RNA identifies null alleles causing mild osteogenesis imperfecta
1996-04-01

A human RNA helicase-like protein, HRH1, facilitates nuclear export of spliced mRNA by releasing the RNA from the spliceosome
1996-03-01

Evidence that the decay of nucleus-associated nonsense mRNA for human triosephosphate isomerase involves nonsense codon recognition after splicing
1996-05-01

Nonsense mutations inhibit RNA splicing in a cell-free system: recognition of mutant codon is independent of protein synthesis

José Yélamos
1995-01-01

Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders
1995-02-10

Exon recognition in vertebrate splicing
1995-01-01

Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy: mechanisms of dystrophin production
1995-12-01

A regulatory mechanism that detects premature nonsense codons in T-cell receptor transcripts in vivo is reversed by protein synthesis inhibitors in vitro
1995-07-01

When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells
1995-11-01

Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA.
1995-03-01

Characterization of revertant muscle fibers in Duchenne muscular dystrophy, using exon-specific monoclonal antibodies against dystrophin
1995-01-01

Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients

Thilo Dörk, Manfred Stuhrmann
1994-03-01

Frameshift mutations in the v-src gene of avian sarcoma virus act in cis to specifically reduce v-src mRNA levels
1994-05-01

Detection of three nonsense mutations and one missense mutation in the interleukin-2 receptor gamma chain gene in SCIDX1 that differently affect the mRNA processing

Alain Fischer, Agathe Subtil
1994-05-01

Structural organization of the human type VII collagen gene (COL7A1), composed of more exons than any previously characterized gene
1994-09-01

Nonsense but not missense mutations can decrease the abundance of nuclear mRNA for the mouse major urinary protein, while both types of mutations can facilitate exon skipping
1994-09-01

Introns are cis effectors of the nonsense-codon-mediated reduction in nuclear mRNA abundance

Xianbo Zhou
1994-12-01

Mammalian nonsense codons can be cis effectors of nuclear mRNA half-life

Xianbo Zhou
1994-10-01

Low cytoplasmic mRNA levels of immunoglobulin kappa light chain genes containing nonsense codons correlate with inefficient splicing

Francisco Lozano
1994-11-01

Evidence for degradation of mRNA encoding alpha-L-iduronidase in Hurler fibroblasts with premature termination alleles
1994-10-01

Maintenance of an open reading frame as an additional level of scrutiny during splice site selection
1994-06-01

Split genes and RNA splicing
1994-02-01

Upstream introns influence the efficiency of final intron removal and RNA 3'-end formation
1994-04-01

Nonsense codon mutations in the terminal exon of the beta-globin gene are not associated with a reduction in beta-mRNA accumulation: a mechanism for the phenotype of dominant beta-thalassemia
1994-04-01

Construction of a novel database containing aberrant splicing mutations of mammalian genes
1994-01-01

The stop mutation R553X in the CFTR gene results in exon skipping
1993-03-01

Nonsense codons can reduce the abundance of nuclear mRNA without affecting the abundance of pre-mRNA or the half-life of cytoplasmic mRNA.
1993-03-01

T cell receptor-beta mRNA splicing: regulation of unusual splicing intermediates
1993-02-01

Occurrence of a 2-bp (AT) deletion allele and a nonsense (G-to-T) mutant allele at the E2 (DBT) locus of six patients with maple syrup urine disease: multiple-exon skipping as a secondary effect of the mutations
1993-01-01

Evidence to implicate translation by ribosomes in the mechanism by which nonsense codons reduce the nuclear level of human triosephosphate isomerase mRNA.
1993-08-01

Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area

Article - wd:Q42590534

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